Journal of

Genetics and Genome ResearchISSN: 2378-3648


 Open Access DOI:10.23937/2378-3648/1410041

Identification of the Single Nucleotide Polymorphisms Affecting Normal Phenotypic Variability in Human Craniofacial Morphology Using Candidate Gene Approach

Mark Barash, Philipp E Bayer and Angela van Daal

Article Type: Research Article | First Published: December 08, 2018

There is a remarkable variety of human facial appearances, almost exclusively the result of genetic differences, as exemplified by the striking resemblance of identical twins. Despite intensive research on the genetics of craniofacial morphology using animal models and human craniofacial syndromes, the genetic variation that underpins normal human facial appearance is still largely elusive....

 Open Access DOI:10.23937/2378-3648/1410040

HLA DRB1*/DQA1*Alleles and TNF-alpha G308A Polymorphism Protect against Neuromyelitis Optica in the Cuban Population

Fernandez-de-Cossio ME, Cintado A, Nazabal M, Camacho H, Diaz T, Villarreal A, Ale M, Grass D, Cervantes-Llanos M, Pavon-Fuentes N, Benitez JV, Cabrera-Gomez JA, Diaz de la Fe A and Penton-Rol G

Article Type: Research Article | First Published: November 23, 2018

Neuromyelitis optica (NMO) is a complex immune-mediated disease whose prevalence differs among ethnic groups, most likely due to genetic factors. The presence of the Human Leucocyte Antigens (HLA) extended haplotype is a risk for NMO. The tumor necrosis factor-alpha (TNF-a) is believed to play a role in NMO pathogenesis. Although single nucleotide polymorphisms (SNPs) in the TNF-a promoter region (pTNF-a) has been shown to influence levels of TNF-a production, such an association is not evident ...

 Open Access DOI:10.23937/2378-3648/1410039

A Novel Mutation in the MFN2 Gene Associated with Hereditary Sensory and Motor Neuropathy with Proximal Predominance (HMSN-P)- A Case Report

D Hettiaracchchi, K Weththasigha, N Nethikumara, S Pathirana and WHV Dissanayaka

Article Type: Case Report | First Published: October 17, 2018

Mutations in mitofusin 2 gene have been reported in Charcot-Marie-Tooth type 2 disease also known as Hereditary Sensory and Motor Neuropathy. With its cytogenetic location: 1p36.22. A 43-year-old female with a family history of neuropathy was experiencing gradual detrition and proximal weakness of the bilateral lower limb for the past 3 years. Her MRI scan (Brain and whole Spinal) was normal and Electromyography (EMG) report was suggestive of motor & sensory demyelinating polyneuropathy with fea...

 Open Access DOI:10.23937/2378-3648/1410038

Molecular Landscape and Clonal Evolution of Acute Mast Cell Leukemia: Case Study

Ricardo Sanchez, Maria Liz Paciello, Rosa M Ayala, Leyre Lorza, Teresa Cedena, M Pilar Martinez and Joaquin Martinez-Lopez

Article Type: Case Report | First Published: September 20, 2018

Systemic mastocytosis is a rare disorder characterized by clonal proliferation, which results in abnormally high numbers of mast cells in the skin, bone marrow, and internal organs, such as liver, spleen, or lymph nodes. Mast cell leukemia and subvariants were stratified by the World Health Organization in 2016, as a subtype of systemic mastocytosis. The World Health Organization classification of tumors that arise in hematopoietic and lymphoid tissues represents the worldwide consensus on hemat...

 Open Access DOI:10.23937/2378-3648/1410037

Combination of Vitamin K2 and Phosphatidylcholine Inhibits Hepatocarcinogenesis via Mir-16 Regulating

Ruicheng Yan, Jianfei Luo, Fusheng Lin, Chao Hu, and Shiqiang Shen

Article Type: ORIGINAL RESEARCH | First Published: September 12, 2018

Vitamin K2 and phosphatidylcholine are two common drugs in clinical treatment. Studies carried out in the past several years demonstrated vitamin K2 and phosphatidylcholine could separately inhibit hepatocarcinogenesis. In this study, we sought to investigate the synergy of vitamin K2 and phosphatidylcholine and the potential mechanism. Multiple assays were performed to evaluate the effect of combination administration in vitro and in vivo. Then microRNA microarray, bioinformatics analysis and w...

 Open Access DOI:10.23937/2378-3648/1410036

Comprehensive Leaf Transcriptome of a Non-model Plant, Abelmoschus esculentus for the Functional Genomics Studies

Padmanabhan Priyavathi, Srikakulam Nagesh, Velayudha Vimala Kumar Kavitha, Christdas Johnson and Pandi Gopal

Article Type: Research Article | First Published: August 25, 2018

Abelmoschus esculentus is widely cultivated and consumed across the globe for its nutritional and medicinal purpose. In spite of the growing demand, its cultivation is massively affected by various insects, fungi, nematodes and viruses. Due to lack of genomic and limited transcriptomic resources, genetic manipulation studies concerning the crop improvement against various environmental factors is scarce for this crop. Thereby, the present study aims to develop high quality transcriptome of A. es...

 Open Access DOI:10.23937/2378-3648/1410035

Identification of Expression QTLs Targeting Candidate Genes for Residual Feed Intake in Dairy Cattle Using Systems Genomics

Salleh MS, Mazzoni G, Nielsen MO, Lovendahl P and Kadarmideen HN

Article Type: Research Article | First Published: July 16, 2018

Residual feed intake (RFI) is the difference between actual and predicted feed intake and an important factor determining feed efficiency (FE). Recently, 170 candidate genes were associated with RFI, but no expression quantitative trait loci (eQTL) mapping has hitherto been performed on FE related genes in dairy cows. In this study, an integrative systems genetics approach was applied to map eQTLs in Holstein and Jersey cows fed two different diets to improve identification of candidate genes fo...

 Open Access DOI:10.23937/2378-3648/1410034

Investigation of Aeromonas: A Medical and Biotechnological Perspective

Zeynep Yegin and Cumhur Avsar

Article Type: Research Article | First Published: June 23, 2018

The genus Aeromonas is widely distributed in aquatic environments and certain strains are serious pathogens in poikilothermic animals and humans. Human infections related with this pathogen include gastroenteritis, urinary tract infections, pneumonia, wound infections and septicemia. In this study, both the correct medical diagnosis with taking advantages of molecular approaches and a brief investigation of the enzymatic activity potential of Aeromonas were aimed....

 Open Access DOI:10.23937/2378-3648/1410033

A Review of NEMO Protein and its Relationship with Genetic Diseases

Mohammad Reza Zinatizadeh, Zahra Masoumalinejad, Azim Nejatizadeh, Mohammad Shekari, Farzaneh Parnak and Faeghe Zaree

Article Type: Review Article | First Published: May 30, 2018

NF-κB essential modulator (NEMO) syndrome is an immunodeficiency disease. NF-κB proteins, which regulate the expression of genes that moderate important physiological processes, are called regulatory of cell homeostasis. NEMO is a protein in the IKK inhibitor complex that many organ systems normally do not grow. Cells (as well as organ and tissues) do not grow proteins they express proteins....

Volume 5
Issue 1